rs757725417, IMMT

N. diseases: 3
Disease: Myopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myopathy
CUI: C0026848
Disease: Myopathy
0.010 GeneticVariation BEFREE Our results provide evidence that the pathogenesis of the MyHC IIa E706K myopathy involves defective function of the mutated myosin as well as alterations in the structural integrity of all muscle cells irrespective of MyHC isoform expression. 17005402 2006